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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Hyperkinesis
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Accession:DOID:9002362 term browser browse the term
Definition:Excessive movement of muscles of the body as a whole, which may be associated with organic or psychological disorders.
Synonyms:exact_synonym: Generalized Hyperkinesia;   Generalized Hyperkinesias;   Hyperkinesia;   Hyperkinetic Movement;   Hyperkinetic Movements;   Motor Hyperactivity
 primary_id: MESH:D006948



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Hyperkinesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY1 adenylate cyclase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16914643 NCBI chr 7:46,289,042...46,436,839
Ensembl chr 7:46,354,640...46,492,549
JBrowse link
G ADCY8 adenylate cyclase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16914643 NCBI chr 8:127,418,407...127,681,217
Ensembl chr 8:130,398,288...130,661,073
JBrowse link
G ADORA2A adenosine A2a receptor ISO CTD Direct Evidence: therapeutic CTD PMID:15187444 NCBI chr22:5,233,876...5,248,622
Ensembl chr22:22,104,253...22,114,189
JBrowse link
G BCHE butyrylcholinesterase ISO CTD Direct Evidence: therapeutic CTD PMID:12019200 NCBI chr 3:162,794,184...162,858,574
Ensembl chr 3:170,845,494...170,911,481
JBrowse link
G CALCA calcitonin related polypeptide alpha ISO CTD Direct Evidence: therapeutic CTD PMID:6293644 PMID:6686863 NCBI chr11:15,055,897...15,061,539
Ensembl chr11:14,745,588...14,751,267
JBrowse link
G CCK cholecystokinin ISO CTD Direct Evidence: therapeutic CTD PMID:3561887 PMID:3735805 NCBI chr 3:42,168,012...42,176,358
Ensembl chr 3:42,431,022...42,439,396
JBrowse link
G CNTNAP2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21962519 NCBI chr 7:137,858,607...140,150,820
Ensembl chr 7:150,345,240...152,626,818
JBrowse link
G CRHR1 corticotropin releasing hormone receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19339610 NCBI chr17:11,261,435...11,313,630
Ensembl chr17:11,650,057...11,701,208
JBrowse link
G DISC1 DISC1 scaffold protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26754951 NCBI chr 1:207,180,513...207,594,684
Ensembl chr 1:212,265,520...212,612,079
JBrowse link
G DRD1 dopamine receptor D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24418703 NCBI chr 5:170,787,115...170,792,383
Ensembl chr 5:177,688,917...177,690,257
JBrowse link
G DRD2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1975278 PMID:24418703 NCBI chr11:108,289,838...108,357,174
Ensembl chr11:112,132,703...112,198,935
JBrowse link
G DRD3 dopamine receptor D3 ISO CTD Direct Evidence: therapeutic CTD PMID:16026479 NCBI chr 3:111,265,834...111,317,176
Ensembl chr 3:118,187,636...118,237,403
JBrowse link
G DRD4 dopamine receptor D4 ameliorates ISO mRNA:decreased expression:midbrain RGD PMID:11967637 PMID:12459514 RGD:401960108 RGD:401960114 NCBI chr11:640,401...646,775 JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18355967 NCBI chr14:55,832,570...55,835,984
Ensembl chr14:74,676,316...74,679,766
JBrowse link
G GABBR1 gamma-aminobutyric acid type B receptor subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16990508 NCBI chr 6:29,405,026...29,437,108
Ensembl chr 6:30,065,119...30,095,304
JBrowse link
G GCG glucagon ISO CTD Direct Evidence: therapeutic CTD PMID:9798264 NCBI chr2B:49,436,379...49,446,559
Ensembl chr2B:166,806,016...166,811,155
JBrowse link
G GIT1 GIT ArfGAP 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499268 NCBI chr17:27,185,025...27,201,146
Ensembl chr17:27,706,776...27,717,857
JBrowse link
G GRIA1 glutamate ionotropic receptor AMPA type subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18171924 PMID:19036973 NCBI chr 5:148,879,996...149,206,914
Ensembl chr 5:154,879,080...155,204,660
JBrowse link
G GRIA2 glutamate ionotropic receptor AMPA type subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18171924 NCBI chr 4:149,566,563...149,712,135
Ensembl chr 4:161,380,933...161,524,376
JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16300424 PMID:19347958 NCBI chr13:27,976,415...28,042,941
Ensembl chr13:46,694,273...46,759,826
JBrowse link
G HTR2C 5-hydroxytryptamine receptor 2C ISO CTD Direct Evidence: therapeutic CTD PMID:19347958 NCBI chr  X:103,673,172...103,999,133
Ensembl chr  X:114,199,485...114,503,201
JBrowse link
G HTR7 5-hydroxytryptamine receptor 7 ISO RGD PMID:18332680 RGD:6482186 NCBI chr10:87,480,970...87,598,212
Ensembl chr10:91,009,941...91,125,158
JBrowse link
G IL2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8241462 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
JBrowse link
G MAP6 microtubule associated protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16046005 NCBI chr11:70,646,650...70,728,691 JBrowse link
G NGF nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:1661212 NCBI chr 1:87,223,597...87,276,759 JBrowse link
G NPPC natriuretic peptide C ISO CTD Direct Evidence: therapeutic CTD PMID:11860464 NCBI chr2B:119,148,774...119,153,381
Ensembl chr2B:237,936,939...237,941,244
JBrowse link
G NPS neuropeptide S ISO CTD Direct Evidence: marker/mechanism CTD PMID:19339610 NCBI chr10:124,135,616...124,139,845
Ensembl chr10:128,384,897...128,388,217
JBrowse link
G NPY neuropeptide Y ISO CTD Direct Evidence: marker/mechanism CTD PMID:19063928 NCBI chr 7:24,963,056...24,970,803
Ensembl chr 7:24,568,041...24,574,657
JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20826313 PMID:20947769 NCBI chr 9:39,663,986...40,208,770
Ensembl chr 9:84,021,837...84,372,678
JBrowse link
G NTS neurotensin ISO CTD Direct Evidence: therapeutic CTD PMID:3748325 PMID:6682440 NCBI chr12:83,402,313...83,410,356
Ensembl chr12:86,640,720...86,648,745
JBrowse link
G OXT oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: therapeutic CTD PMID:18092152 NCBI chr20:3,157,246...3,159,013 JBrowse link
G SLC6A3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347339 PMID:18588534 Ensembl chr 5:1,437,567...1,488,829 JBrowse link
G SNCG synuclein gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:18588534 NCBI chr10:83,383,566...83,391,064 JBrowse link
G TH tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:9822156 NCBI chr11:2,204,820...2,212,750
Ensembl chr11:2,231,248...2,242,433
JBrowse link
Infantile-Onset Limb and Orofacial Dyskinesia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE10A phosphodiesterase 10A ISO ClinVar Annotator: match by term: Dyskinesia, limb and orofacial, infantile-onset | ClinVar Annotator: match by term: PDE10A-related condition OMIM
ClinVar
PMID:25741868 PMID:27058446 PMID:27058447 PMID:28492532 PMID:29159890 More... NCBI chr 6:163,274,252...163,612,749
Ensembl chr 6:168,265,707...168,645,231
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28971144 PMID:33704598 PMID:34631954 NCBI chr 3:120,380,094...120,545,725
Ensembl chr 3:127,283,921...127,446,508
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PI4K2A phosphatidylinositol 4-kinase type 2 alpha ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities ClinVar
OMIM
PMID:30564627 PMID:35880319 NCBI chr10:94,261,096...94,293,358 JBrowse link
Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZNF142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired speech and hyperkinetic movements | ClinVar Annotator: match by term: ZNF142-related condition OMIM
ClinVar
PMID:25741868 PMID:27066578 PMID:30389958 PMID:31036918 PMID:35616059 More... NCBI chr2B:105,894,127...105,917,608
Ensembl chr2B:224,492,064...224,509,839
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15832
    Pathological Conditions, Signs and Symptoms 12336
      Signs and Symptoms 10381
        Neurologic Manifestations 10057
          Dyskinesias 2177
            Hyperkinesis 38
              Infantile-Onset Limb and Orofacial Dyskinesia 1
              NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA 1
              NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES 1
              Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements 1
Path 2
Term Annotations click to browse term
  disease 15832
    disease of anatomical entity 15489
      nervous system disease 13586
        central nervous system disease 12149
          brain disease 11415
            movement disease 2555
              Dyskinesias 2177
                Hyperkinesis 38
                  Infantile-Onset Limb and Orofacial Dyskinesia 1
                  NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA 1
                  NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES 1
                  Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements 1
paths to the root